2. Gene
  3. PTCD1 - pentatricopeptide repeat domain 1 Gene

PTCD1 - pentatricopeptide repeat domain 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 26024 | Gene type: protein coding

About PTCD1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:99,416,739-99,438,798 (from NCBI)

This gene has 5 transcripts (splice variants), 190 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues.

Summary

This gene encodes a mitochondrial protein that binds leucine tRNAs and Other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP Synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]

PTCD1 Products(1)

mRNA Protein Name
NM_015545.4 NP_056360.2 pentatricopeptide repeat-containing protein 1, mitochondrial
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables tRNA binding IDA
IDA: Inferred from direct assay
19651879 GOA
Biological Process GO Annotation Evidence Reference Source
involved in tRNA 3'-end processing IDA
IDA: Inferred from direct assay
21857155 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IDA
IDA: Inferred from direct assay
19651879 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PTCD1 Protein Structure

PPR_2

PPR_2: PPR repeat family (176 - 219)

PPR_3

PPR_3: Pentatricopeptide repeat domain (248 - 277)

  • 0
  • 200
  • 400
  • 600
  • 700 a.a.
Protein Preferred Names Protein Names

pentatricopeptide repeat-containing protein 1, mitochondrial

PTCD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Y2H Array
32296183
Intra
PTCD1 O75127 NFKBID Homo sapiens Q8NI38
Validated Y2H
32296183
Intra
PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra
PTCD1 O75127 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra
PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Validated Y2H
32296183
Intra
PTCD1 O75127 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
Intra
PTCD1 O75127 GEMIN4 Homo sapiens P57678
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 GEMIN4 Homo sapiens P57678
Y2H Array
32296183
Intra
PTCD1 O75127 GEMIN4 Homo sapiens P57678
Validated Y2H
32296183
Intra
PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Validated Y2H
32296183
Intra
PTCD1 O75127 CARD10 Homo sapiens Q9BWT7
Y2H Array
32296183
Intra
PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra
PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra
PTCD1 O75127 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra
PTCD1 O75127 SYP Homo sapiens P08247
Y2H Array
32296183
Intra
PTCD1 O75127 SYP Homo sapiens P08247
Validated Y2H
32296183
Intra
PTCD1 O75127 SYP Homo sapiens P08247
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI
Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia
Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers
Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS11354 PTCD1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PTCD1 MGD MGI:1919049